Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of theCOL7A1Gene with Automated Peak Comparison-Reference-Cited by-同舟云学术

Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of theCOL7A1Gene with Automated Peak Comparison

Published:2009-10 Issue:5 Volume:13 Page:589-597
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

van den Akker Peter C.¹,Hettema Wendy²,Meijer Rowdy²,Jonkman Marcel F.³,Hofstra Robert M.W.¹,Scheffer Hans²

Affiliation:

1. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

2. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

3. Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0020

Reference22 articles.

1. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa

2. Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa

3. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.

4. Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

5. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing;Journal of the European Academy of Dermatology and Venereology;2024-03-11

2. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen;Journal of Medical Genetics;2010-11-26

3. Interlaboratory Diagnostic Validation of Conformation-Sensitive Capillary Electrophoresis for Mutation Scanning;Clinical Chemistry;2010-04-01